Perrault syndrome: Clinical report and retrospective analysis
Z Pan, H Xu, Y Tian, D Liu, H Liu, R Li… - … Genetics & Genomic …, 2020 - Wiley Online Library
Background Perrault syndrome (PRLTS4; OMIM# 615300) is a rare autosomal recessive
disorder and only a few cases have been reported worldwide. We report a Chinese female …
disorder and only a few cases have been reported worldwide. We report a Chinese female …
Increased diagnosis of enlarged vestibular aqueduct by multiplex PCR enrichment and next‐generation sequencing of the SLC26A4 gene
Y Tian, H Xu, D Liu, J Zhang, Z Yang… - … Genetics & Genomic …, 2021 - Wiley Online Library
Background The enlarged vestibular aqueduct (EVA) is the commonest malformation of inner
ear accompanied by sensorineural hearing loss in children. Three genes SLC26A4, FOXI1…
ear accompanied by sensorineural hearing loss in children. Three genes SLC26A4, FOXI1…
[HTML][HTML] High genetic heterogeneity in Chinese patients with Waardenburg syndrome revealed by next-generation sequencing
S Zhang, H Xu, Y Tian, D Liu, X Hou, B Zeng… - Frontiers in …, 2021 - frontiersin.org
Objective This study aimed to explore the genetic causes of probands who were diagnosed
with Waardenburg syndrome (WS) or congenital sensorineural hearing loss. Methods A …
with Waardenburg syndrome (WS) or congenital sensorineural hearing loss. Methods A …
[HTML][HTML] Novel compound heterozygous pathogenic variants in the SLC3A1 gene in a Chinese family with cystinuria
Background Cystinuria is an autosomal recessive disorder characterized by a cystine
transport deficiency in the renal tubules due to mutations in two genes: SLC3A1 and SLC7A9. …
transport deficiency in the renal tubules due to mutations in two genes: SLC3A1 and SLC7A9. …
Early truncation of the N‐terminal variable region of EYA4 gene causes dominant hearing loss without cardiac phenotype
Y Mi, D Liu, B Zeng, Y Tian, H Zhang… - … Genetics & Genomic …, 2021 - Wiley Online Library
Background Autosomal dominant hearing loss (ADHL) accounts for about 20% of all
hereditary non‐syndromic HL. Truncating mutations of the EYA4 gene can cause either non‐…
hereditary non‐syndromic HL. Truncating mutations of the EYA4 gene can cause either non‐…
[HTML][HTML] Missense variant of endoplasmic reticulum region of WFS1 gene causes autosomal dominant hearing loss without syndromic phenotype
Objective. Genetic variants in the WFS1 gene can cause Wolfram syndrome (WS) or
autosomal dominant nonsyndromic low-frequency hearing loss (HL). This study is aimed at …
autosomal dominant nonsyndromic low-frequency hearing loss (HL). This study is aimed at …
Treacher Collins syndrome: Clinical report and retrospective analysis of Chinese patients
Z Pan, H Xu, B Chen, Y Tian, L Zhang… - … Genetics & Genomic …, 2021 - Wiley Online Library
Background Treacher Collins syndrome‐1 (TCS1; OMIM# 154500) is a rare autosomal
dominant disease that is defined by congenital craniofacial dysplasia. Here, we report four …
dominant disease that is defined by congenital craniofacial dysplasia. Here, we report four …
[HTML][HTML] Increased diagnostic yield in a cohort of hearing loss families using a comprehensive stepwise strategy of molecular testing
Hearing loss is one of the most common sensory disorders in humans. This study proposes
a stepwise strategy of deafness gene detection using multiplex PCR combined with high-…
a stepwise strategy of deafness gene detection using multiplex PCR combined with high-…
[HTML][HTML] A novel nonsense variant of the AGXT identified in a Chinese family: special variant research in the Chinese reference genome
…, XD Zhou, HE Xu, YL Zhao, XH Zhao, DH Liu, YA Tian… - BMC nephrology, 2021 - Springer
Background Primary hyperoxaluria(PH)is a rare autosomal recessive genetic disease that
contains three subtypes (PH1, PH2 and PH3). Approximately 80% of PH patients has been …
contains three subtypes (PH1, PH2 and PH3). Approximately 80% of PH patients has been …
[HTML][HTML] A novel splicing variant in the TMC1 gene causes non-syndromic hearing loss in a Chinese family
B Zeng, H Xu, Y Tian, Q Lin, H Feng, Z Zhang… - Chinese Medical …, 2022 - mednexus.org
To the Editor: Hearing loss is the most common sensory disorder in humans. There is one
case of congenital deafness among every 1000 newborns, and in 50% of cases, the deafness …
case of congenital deafness among every 1000 newborns, and in 50% of cases, the deafness …